Incidental Mutation 'IGL01295:Ugt2b36'
ID |
73046 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ugt2b36
|
Ensembl Gene |
ENSMUSG00000070704 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B36 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
IGL01295
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
87213786-87240414 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87228744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 234
(V234A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120005
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094649]
[ENSMUST00000132667]
[ENSMUST00000145617]
|
AlphaFold |
Q3UEP4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094649
AA Change: V433A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000092233 Gene: ENSMUSG00000070704 AA Change: V433A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
24 |
527 |
6.9e-260 |
PFAM |
Pfam:Glyco_tran_28_C
|
339 |
448 |
2e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132667
|
SMART Domains |
Protein: ENSMUSP00000123024 Gene: ENSMUSG00000070704
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
24 |
105 |
1.1e-23 |
PFAM |
Pfam:UDPGT
|
99 |
265 |
7.4e-95 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000145617
AA Change: V234A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120005 Gene: ENSMUSG00000070704 AA Change: V234A
Domain | Start | End | E-Value | Type |
Pfam:UDPGT
|
22 |
249 |
2.1e-127 |
PFAM |
Pfam:Glyco_tran_28_C
|
164 |
245 |
1.7e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154455
|
SMART Domains |
Protein: ENSMUSP00000120633 Gene: ENSMUSG00000070704
Domain | Start | End | E-Value | Type |
Pfam:UDPGT
|
1 |
198 |
1.2e-117 |
PFAM |
Pfam:Glyco_tran_28_C
|
109 |
194 |
1.7e-9 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
G |
T |
14: 32,383,893 (GRCm39) |
L691I |
possibly damaging |
Het |
Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
Apol10b |
A |
T |
15: 77,469,796 (GRCm39) |
V127E |
probably damaging |
Het |
Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
Atn1 |
T |
C |
6: 124,726,239 (GRCm39) |
E80G |
probably damaging |
Het |
Carmil2 |
T |
C |
8: 106,422,148 (GRCm39) |
M1139T |
probably benign |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Celf5 |
G |
T |
10: 81,302,914 (GRCm39) |
|
probably benign |
Het |
Chd6 |
G |
A |
2: 160,830,290 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,551,208 (GRCm39) |
V2136E |
probably damaging |
Het |
Col4a1 |
G |
T |
8: 11,286,075 (GRCm39) |
|
probably benign |
Het |
Dph1 |
A |
G |
11: 75,071,775 (GRCm39) |
|
probably benign |
Het |
Dvl2 |
G |
T |
11: 69,900,410 (GRCm39) |
V735F |
possibly damaging |
Het |
Eif3b |
A |
G |
5: 140,427,495 (GRCm39) |
I709V |
possibly damaging |
Het |
Elp5 |
C |
T |
11: 69,859,296 (GRCm39) |
|
probably benign |
Het |
Exd1 |
A |
T |
2: 119,360,560 (GRCm39) |
|
probably benign |
Het |
Fbxl4 |
C |
A |
4: 22,427,348 (GRCm39) |
R530S |
probably benign |
Het |
Fmo4 |
A |
T |
1: 162,626,693 (GRCm39) |
D284E |
probably damaging |
Het |
Fn3krp |
A |
G |
11: 121,312,380 (GRCm39) |
Y31C |
probably damaging |
Het |
Galnt14 |
G |
T |
17: 73,811,914 (GRCm39) |
Q436K |
probably benign |
Het |
Gm5114 |
A |
T |
7: 39,057,241 (GRCm39) |
W793R |
probably damaging |
Het |
Gm9376 |
T |
G |
14: 118,505,059 (GRCm39) |
S164A |
possibly damaging |
Het |
Gtf2ird2 |
G |
A |
5: 134,221,603 (GRCm39) |
D69N |
probably damaging |
Het |
Hfm1 |
A |
C |
5: 107,065,472 (GRCm39) |
M69R |
possibly damaging |
Het |
Ighv9-1 |
A |
C |
12: 114,057,619 (GRCm39) |
S94A |
probably damaging |
Het |
Ikzf2 |
C |
T |
1: 69,617,146 (GRCm39) |
R67H |
probably benign |
Het |
Ipcef1 |
A |
T |
10: 6,850,642 (GRCm39) |
F316L |
probably damaging |
Het |
Kdsr |
A |
G |
1: 106,683,187 (GRCm39) |
V62A |
possibly damaging |
Het |
Kif23 |
A |
T |
9: 61,839,411 (GRCm39) |
C279S |
possibly damaging |
Het |
Klf5 |
C |
T |
14: 99,539,157 (GRCm39) |
T110I |
probably benign |
Het |
Klhl25 |
T |
A |
7: 75,515,620 (GRCm39) |
H175Q |
probably benign |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Nfatc4 |
T |
C |
14: 56,069,962 (GRCm39) |
V710A |
probably benign |
Het |
Optn |
G |
A |
2: 5,037,967 (GRCm39) |
T409I |
possibly damaging |
Het |
Or10j3b |
A |
T |
1: 173,043,440 (GRCm39) |
Y74F |
probably damaging |
Het |
Or52a5 |
C |
T |
7: 103,427,448 (GRCm39) |
V35I |
probably benign |
Het |
Pabpc2 |
T |
A |
18: 39,907,082 (GRCm39) |
Y116N |
probably damaging |
Het |
Pafah1b1 |
G |
T |
11: 74,574,473 (GRCm39) |
R238S |
probably damaging |
Het |
Pdzd9 |
C |
T |
7: 120,267,618 (GRCm39) |
G66R |
probably damaging |
Het |
Pih1d1 |
T |
C |
7: 44,809,388 (GRCm39) |
L285P |
probably damaging |
Het |
Pirb |
G |
A |
7: 3,720,405 (GRCm39) |
P323S |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,883,685 (GRCm39) |
F396L |
possibly damaging |
Het |
Pla2g4d |
G |
A |
2: 120,112,207 (GRCm39) |
T108M |
probably damaging |
Het |
Plin3 |
T |
C |
17: 56,586,814 (GRCm39) |
Y411C |
probably damaging |
Het |
Ppfibp2 |
T |
C |
7: 107,346,746 (GRCm39) |
|
probably benign |
Het |
Prrc2c |
T |
C |
1: 162,510,061 (GRCm39) |
S995G |
probably damaging |
Het |
Ptf1a |
T |
C |
2: 19,451,429 (GRCm39) |
I253T |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,198,553 (GRCm39) |
I1684V |
probably benign |
Het |
Ptprk |
G |
A |
10: 28,351,174 (GRCm39) |
V556I |
probably benign |
Het |
Rffl |
A |
T |
11: 82,709,283 (GRCm39) |
C47S |
probably damaging |
Het |
Rnf17 |
C |
T |
14: 56,700,521 (GRCm39) |
Q569* |
probably null |
Het |
Shprh |
A |
G |
10: 11,059,612 (GRCm39) |
E1121G |
probably damaging |
Het |
Slc1a5 |
A |
G |
7: 16,529,787 (GRCm39) |
D402G |
probably damaging |
Het |
Slc24a3 |
G |
A |
2: 145,458,634 (GRCm39) |
|
probably null |
Het |
Slc2a13 |
T |
A |
15: 91,234,335 (GRCm39) |
|
probably null |
Het |
Slc30a8 |
A |
T |
15: 52,169,955 (GRCm39) |
N61Y |
possibly damaging |
Het |
Slitrk6 |
A |
T |
14: 110,988,868 (GRCm39) |
S280T |
possibly damaging |
Het |
Smad2 |
G |
A |
18: 76,435,501 (GRCm39) |
A365T |
probably benign |
Het |
Tcp10b |
C |
T |
17: 13,299,047 (GRCm39) |
P367S |
probably damaging |
Het |
Tdp1 |
A |
G |
12: 99,857,929 (GRCm39) |
N163D |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,948,808 (GRCm39) |
D488G |
possibly damaging |
Het |
Trappc12 |
C |
T |
12: 28,796,761 (GRCm39) |
S257N |
probably damaging |
Het |
Treml1 |
T |
C |
17: 48,672,627 (GRCm39) |
|
probably benign |
Het |
Vmn2r86 |
T |
G |
10: 130,288,895 (GRCm39) |
H202P |
probably damaging |
Het |
Vmn2r87 |
C |
A |
10: 130,307,878 (GRCm39) |
V787F |
probably damaging |
Het |
Wbp2nl |
T |
A |
15: 82,190,619 (GRCm39) |
M129K |
probably damaging |
Het |
Zdhhc15 |
T |
C |
X: 103,588,519 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ugt2b36 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00513:Ugt2b36
|
APN |
5 |
87,229,440 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL01024:Ugt2b36
|
APN |
5 |
87,228,728 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01331:Ugt2b36
|
APN |
5 |
87,238,801 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02597:Ugt2b36
|
APN |
5 |
87,228,783 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02967:Ugt2b36
|
APN |
5 |
87,238,759 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL03053:Ugt2b36
|
APN |
5 |
87,239,933 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0370:Ugt2b36
|
UTSW |
5 |
87,239,834 (GRCm39) |
missense |
probably benign |
0.04 |
R0616:Ugt2b36
|
UTSW |
5 |
87,237,336 (GRCm39) |
missense |
probably benign |
0.01 |
R0827:Ugt2b36
|
UTSW |
5 |
87,214,234 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0885:Ugt2b36
|
UTSW |
5 |
87,239,848 (GRCm39) |
missense |
probably benign |
0.03 |
R1471:Ugt2b36
|
UTSW |
5 |
87,239,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R1567:Ugt2b36
|
UTSW |
5 |
87,240,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R1782:Ugt2b36
|
UTSW |
5 |
87,229,440 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1974:Ugt2b36
|
UTSW |
5 |
87,228,727 (GRCm39) |
critical splice donor site |
probably null |
|
R2065:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
R2066:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
R2068:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
R2111:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
R2272:Ugt2b36
|
UTSW |
5 |
87,214,114 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2696:Ugt2b36
|
UTSW |
5 |
87,237,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R4626:Ugt2b36
|
UTSW |
5 |
87,239,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R4700:Ugt2b36
|
UTSW |
5 |
87,240,301 (GRCm39) |
critical splice donor site |
probably null |
|
R4731:Ugt2b36
|
UTSW |
5 |
87,229,397 (GRCm39) |
nonsense |
probably null |
|
R4732:Ugt2b36
|
UTSW |
5 |
87,229,397 (GRCm39) |
nonsense |
probably null |
|
R4733:Ugt2b36
|
UTSW |
5 |
87,229,397 (GRCm39) |
nonsense |
probably null |
|
R4922:Ugt2b36
|
UTSW |
5 |
87,214,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R5217:Ugt2b36
|
UTSW |
5 |
87,214,114 (GRCm39) |
missense |
probably damaging |
0.97 |
R5244:Ugt2b36
|
UTSW |
5 |
87,239,765 (GRCm39) |
missense |
probably damaging |
0.99 |
R5341:Ugt2b36
|
UTSW |
5 |
87,240,087 (GRCm39) |
nonsense |
probably null |
|
R5478:Ugt2b36
|
UTSW |
5 |
87,237,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R5572:Ugt2b36
|
UTSW |
5 |
87,237,341 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5722:Ugt2b36
|
UTSW |
5 |
87,240,297 (GRCm39) |
nonsense |
probably null |
|
R5961:Ugt2b36
|
UTSW |
5 |
87,228,724 (GRCm39) |
splice site |
probably null |
|
R6034:Ugt2b36
|
UTSW |
5 |
87,229,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R6034:Ugt2b36
|
UTSW |
5 |
87,229,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R6139:Ugt2b36
|
UTSW |
5 |
87,240,030 (GRCm39) |
missense |
probably benign |
|
R6145:Ugt2b36
|
UTSW |
5 |
87,214,072 (GRCm39) |
missense |
probably benign |
|
R6226:Ugt2b36
|
UTSW |
5 |
87,239,989 (GRCm39) |
missense |
probably damaging |
0.99 |
R6531:Ugt2b36
|
UTSW |
5 |
87,229,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R6704:Ugt2b36
|
UTSW |
5 |
87,239,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R6895:Ugt2b36
|
UTSW |
5 |
87,240,157 (GRCm39) |
missense |
probably benign |
0.06 |
R7218:Ugt2b36
|
UTSW |
5 |
87,229,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R7258:Ugt2b36
|
UTSW |
5 |
87,228,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R7310:Ugt2b36
|
UTSW |
5 |
87,214,138 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7650:Ugt2b36
|
UTSW |
5 |
87,228,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R7707:Ugt2b36
|
UTSW |
5 |
87,229,367 (GRCm39) |
critical splice donor site |
probably null |
|
R7866:Ugt2b36
|
UTSW |
5 |
87,240,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R7967:Ugt2b36
|
UTSW |
5 |
87,214,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R7985:Ugt2b36
|
UTSW |
5 |
87,239,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R8098:Ugt2b36
|
UTSW |
5 |
87,240,252 (GRCm39) |
missense |
probably benign |
0.02 |
R8123:Ugt2b36
|
UTSW |
5 |
87,240,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R9294:Ugt2b36
|
UTSW |
5 |
87,228,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R9577:Ugt2b36
|
UTSW |
5 |
87,228,784 (GRCm39) |
missense |
probably benign |
0.09 |
R9630:Ugt2b36
|
UTSW |
5 |
87,239,773 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Posted On |
2013-10-07 |